VHL, von Hippel-Lindau tumor suppressor, 7428

N. diseases: 372; N. variants: 215
Disease: ERYTHROCYTOSIS, FAMILIAL, 2 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104893824
rs104893824 		0.776 0.320 3 10142181 missense variant T/A;C snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1060503552
rs1060503552 		0.925 0.160 3 10142073 frameshift variant TT/- del
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1064796408
rs1064796408 		0.925 0.160 3 10142023 frameshift variant GGCCCGTGCTGCGC/- delins
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1553619976
rs1553619976 		0.925 0.160 3 10146593 frameshift variant -/A delins
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs397516440
rs397516440 		0.851 0.280 3 10142166 missense variant C/G;T snv 4.5E-06
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs5030804
rs5030804 		0.925 0.160 3 10142080 missense variant A/C;G;T snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs5030807
rs5030807 		0.851 0.320 3 10142113 missense variant T/A;C snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs5030810
rs5030810 		0.925 0.160 3 10142184 stop gained C/A;T snv 4.6E-06
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs5030816
rs5030816 		0.925 0.160 3 10149785 splice acceptor variant A/G;T snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs794727253
rs794727253 		0.925 0.160 3 10146621 frameshift variant A/- delins
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs864622545
rs864622545 		0.925 0.160 3 10142103 frameshift variant C/-;CC delins
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs869025644
rs869025644 		0.925 0.160 3 10146543 frameshift variant AC/- delins
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs869025648
rs869025648 		0.851 0.240 3 10146587 synonymous variant A/G snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs869025664
rs869025664 		0.925 0.160 3 10149863 frameshift variant CGTC/- del
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs398123483
rs398123483 		0.925 0.160 3 10149824 frameshift variant -/TTGTCCGT ins 4.0E-06
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 2 1993 1995
dbSNP: rs5030830
rs5030830 		0.925 0.160 3 10146526 missense variant T/C;G snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 1 1998 1998
dbSNP: rs869025649
rs869025649 		0.925 0.160 3 10146588 frameshift variant TC/- delins
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 1 1998 1998
dbSNP: rs5030823
rs5030823 		0.851 0.280 3 10149871 stop gained C/A;G;T snv 4.0E-06
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 3 1996 2001
dbSNP: rs730882020
rs730882020 		0.925 0.160 3 10149798 frameshift variant A/-;AA delins
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 4 1976 2004
dbSNP: rs1559429613
rs1559429613 		0.925 0.160 3 10149795 missense variant C/G snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 2 2000 2004
dbSNP: rs5030622
rs5030622 		0.925 0.160 3 10149809 stop gained C/A;G snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 4 1999 2007
dbSNP: rs5030808
rs5030808 		0.882 0.200 3 10142124 missense variant G/A;C;T snv 4.5E-06
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 4 1996 2007
dbSNP: rs397516441
rs397516441 		0.882 0.200 3 10149790 missense variant A/G snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 6 2002 2010
dbSNP: rs28940298
rs28940298 		0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.800 1.000 13 1996 2011
dbSNP: rs869025622
rs869025622 		0.925 0.160 3 10142111 missense variant G/C;T snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 5 1995 2011